Pompe disease


What health problems should I look for in Pompe disease?

The health problems associated with Pompe disease include profound muscle weakness and breathing problems. In infantile (severe) Pompe disease, babies also develop a very big, weak heart which is a condition called cardiomyopathy. In late onset Pompe disease (LOPD), the heart is usually not involved, but the muscles the body uses to help the lungs move air in and out of the body (the diaphragm) becomes weak. Adults may find that it's difficult to get out of a sitting position to a standing position without having to walk up the legs with the hands.

Without treatment, these symptoms get worse, causing problems with walking, sleeping, swallowing, and breathing. Intelligence is not usually affected by Pompe disease, meaning that people who have Pompe disease do not usually have any learning problems. Individuals with Pompe disease may also experience difficulty chewing, have muscle pain, and get respiratory tract (the lungs and airways) infections.

Babies with Pompe disease are often diagnosed based upon the symptoms seen at birth, but later onset Pompe disease may be more difficult to diagnose and require the involvement of multiple doctors who specialize in areas such as neurology (the nervous system) and metabolics (how the body turns food into energy). The best person to help figure out if someone has Pompe disease is their main doctor, who can then order testing or make referrals to the appropriate specialists.

Pompe disease on Gene Reviews

Pompe Disease - Signs & Symptoms: https://www.pompe.com/en/patients/signs-symptoms.aspx

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